{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T10:10:06Z","timestamp":1756375806637,"version":"3.44.0"},"reference-count":12,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,6,11]]},"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:p>Witkop\u2019s syndrome is one of the milder forms of the 117 known variants of ectodermal dysplasia. Nonsense mutation in the MSX1 gene causes the characteristic features of hypodontia, morphological alterations in teeth and dysgenesis of nails. The presenting features of Witkop\u2019s syndrome differ from the classic ED by showing no involvement of sweat glands or hair. Due to its milder presentation, diagnosis is more likely to be missed, leading to unwarranted functional, aesthetic and psychological dysregulation in patients. Dentists play an important role in early diagnosis and management of Witkop\u2019s syndrome. Therefore, we present this case of a female patient in early adolescence who reported concerns of aesthetics with an aim to enhance clinical awareness of Witkop\u2019s syndrome, which is frequently underdiagnosed due to its subtle presentation.<\/jats:p>","DOI":"10.1136\/bcr-2025-266070","type":"journal-article","created":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T14:25:18Z","timestamp":1750775118000},"page":"e266070","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Witkop\u2019s syndrome: a mild phenotype variant of ectodermal dysplasia"],"prefix":"10.1136","volume":"18","author":[{"given":"Shama","family":"Majalkare","sequence":"first","affiliation":[{"name":"Oral Medicine and Radiology, Coorg Institute of Dental Science, Kodagu, KA, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0907-3244","authenticated-orcid":false,"given":"Ananya","family":"Madiyal","sequence":"additional","affiliation":[{"name":"Nitte (Deemed to be University), AB Shetty Memorial Institute of Dental Sciences, Department of Oral Medicine and Radiology, Mangalore, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vidya","family":"Ajila","sequence":"additional","affiliation":[{"name":"Nitte (Deemed to be University), AB Shetty Memorial Institute of Dental Sciences, Department of Oral Medicine and Radiology, Mangalore, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karthik","family":"A","sequence":"additional","affiliation":[{"name":"Oral Medicine and Radiology, Coorg Institute of Dental Science, Kodagu, KA, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,6,24]]},"reference":[{"key":"2025082802470327000_18.6.e266070.1","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.jobcr.2015.07.003","article-title":"Witkop\u2019s syndrome: A case report","volume":"6","author":"Arora","year":"2016","journal-title":"J Oral Biol Craniofac Res"},{"key":"2025082802470327000_18.6.e266070.2","first-page":"29","article-title":"Witkop tooth and nail syndrome: A case report","volume":"5","author":"Bharti","year":"2019","journal-title":"University J Dent Sci"},{"key":"2025082802470327000_18.6.e266070.3","first-page":"305","article-title":"Fried Tooth and Nail Syndrome with Possible Mutation - A Rare Entity","volume":"7","author":"Devasya","year":"2017","journal-title":"Ann Med Health Sci Res"},{"key":"2025082802470327000_18.6.e266070.4","doi-asserted-by":"crossref","first-page":"115","DOI":"10.4103\/idoj.idoj_187_22","article-title":"Congenital Teeth and Nail Changes with Palmar Keratoderma: A New Entity or a Rare Association?","volume":"14","author":"Monalisa","year":"2023","journal-title":"Indian Dermatol Online J"},{"key":"2025082802470327000_18.6.e266070.5","first-page":"191","article-title":"MSX1 mutation in witkop syndrome; 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